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Protein

Multiple C2 and transmembrane domain-containing protein 2

Gene

MCTP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Might play a role in the development of cardiac outflow tract.1 Publication

Cofactori

Ca2+1 PublicationNote: Binds Ca2+ via the C2 domains in absence of phospholipids.1 Publication

GO - Molecular functioni

  • calcium ion binding Source: HGNC

GO - Biological processi

  • calcium-mediated signaling Source: HGNC
  • multicellular organism development Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
Multiple C2 and transmembrane domain-containing protein 2
Gene namesi
Name:MCTP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:25636. MCTP2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei697 – 717HelicalSequence analysisAdd BLAST21
Transmembranei802 – 822HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • cytoplasm Source: HPA
  • endoplasmic reticulum Source: GO_Central
  • integral component of membrane Source: HGNC
  • membrane Source: UniProtKB
  • nucleoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Heterozygosity for a 2.2-Mb deletion at chromosome 15q26.2, encompassing MCTP2, has been identified in a 10-year-old girl and her 3-year-old half brother, who had both coarctation of the aorta associated with dysmorphic features and ventricular septal defects. An intragenic MCTP2 duplication, leading to premature truncation (F697X) within the first transmembrane region of the protein, has also been observed in a male patient with a non-syndromic complex cardiac malformation involving coarctation, hypoplastic left heart, mitral atresia, bicuspid aortic valve and muscular ventricular septal defect. Although the link between left ventricular outflow tract malformations and MCTP2 could not be established, it has been proposed that defects in the MCTP2 gene may contribute to phenotype. This hypothesis is supported by the observation that Xenopus laevis embryos treated with MCTP2 morpholinos show no evidence of endocardial cushion formation at any level of the developing outflow tract (PubMed:23773997).

Organism-specific databases

DisGeNETi55784.
MalaCardsiMCTP2.
OpenTargetsiENSG00000140563.
Orphaneti1596. Distal monosomy 15q.
PharmGKBiPA142671473.

Polymorphism and mutation databases

BioMutaiMCTP2.
DMDMi294862501.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002944721 – 878Multiple C2 and transmembrane domain-containing protein 2Add BLAST878

Proteomic databases

MaxQBiQ6DN12.
PaxDbiQ6DN12.
PeptideAtlasiQ6DN12.
PRIDEiQ6DN12.

PTM databases

iPTMnetiQ6DN12.
PhosphoSitePlusiQ6DN12.

Expressioni

Gene expression databases

BgeeiENSG00000140563.
CleanExiHS_MCTP2.
ExpressionAtlasiQ6DN12. baseline and differential.
GenevisibleiQ6DN12. HS.

Organism-specific databases

HPAiHPA051176.
HPA070541.

Interactioni

Protein-protein interaction databases

BioGridi120898. 1 interactor.
IntActiQ6DN12. 1 interactor.
STRINGi9606.ENSP00000350377.

Structurei

Secondary structure

1878
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi508 – 520Combined sources13
Beta strandi524 – 528Combined sources5
Beta strandi532 – 538Combined sources7
Beta strandi541 – 544Combined sources4
Beta strandi558 – 565Combined sources8
Beta strandi570 – 579Combined sources10
Beta strandi582 – 586Combined sources5
Beta strandi591 – 593Combined sources3
Helixi594 – 596Combined sources3
Beta strandi617 – 628Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EP6NMR-A504-629[»]
ProteinModelPortaliQ6DN12.
SMRiQ6DN12.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ6DN12.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini181 – 276C2 1PROSITE-ProRule annotationAdd BLAST96
Domaini343 – 436C2 2PROSITE-ProRule annotationAdd BLAST94
Domaini496 – 591C2 3PROSITE-ProRule annotationAdd BLAST96

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi91 – 95Poly-Ser5

Sequence similaritiesi

Belongs to the MCTP family.Curated
Contains 3 C2 domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1030. Eukaryota.
ENOG410XRQN. LUCA.
GeneTreeiENSGT00550000074417.
HOVERGENiHBG055341.
InParanoidiQ6DN12.
OMAiEEAGHLH.
OrthoDBiEOG091G02XX.
PhylomeDBiQ6DN12.
TreeFamiTF323373.

Family and domain databases

Gene3Di2.60.40.150. 3 hits.
InterProiIPR000008. C2_dom.
IPR013583. PRibTrfase_C.
[Graphical view]
PfamiPF00168. C2. 3 hits.
PF08372. PRT_C. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 3 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 3 hits.
PROSITEiPS50004. C2. 3 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6DN12-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDLDKPSVWG SLKQRTRPLL INLSKKKVKK NPSKPPDLRA RHHLDRRLSL
60 70 80 90 100
SVPDLLEAEA LAPEGRPYSG PQSSYTSVPS SLSTAGIFPK SSSSSLKQSE
110 120 130 140 150
EELDWSQEEA SHLHVVETDS EEAYASPAER RRVSSNGIFD LQKTSLGGDA
160 170 180 190 200
PEEPEKLCGS SDLNASMTSQ HFEEQSVPGE ASDGLSNLPS PFAYLLTIHL
210 220 230 240 250
KEGRNLVVRD RCGTSDPYVK FKLNGKTLYK SKVIYKNLNP VWDEIVVLPI
260 270 280 290 300
QSLDQKLRVK VYDRDLTTSD FMGSAFVILS DLELNRTTEH ILKLEDPNSL
310 320 330 340 350
EDDMGVIVLN LNLVVKQGDF KRHRWSNRKR LSASKSSLIR NLRLSESLKK
360 370 380 390 400
NQLWNGIISI TLLEGKNVSG GSMTEMFVQL KLGDQRYKSK TLCKSANPQW
410 420 430 440 450
QEQFDFHYFS DRMGILDIEV WGKDNKKHEE RLGTCKVDIS ALPLKQANCL
460 470 480 490 500
ELPLDSCLGA LLMLVTLTPC AGVSVSDLCV CPLADLSERK QITQRYCLQN
510 520 530 540 550
SLKDVKDVGI LQVKVLKAAD LLAADFSGKS DPFCLLELGN DRLQTHTVYK
560 570 580 590 600
NLNPEWNKVF TFPIKDIHDV LEVTVFDEDG DKPPDFLGKV AIPLLSIRDG
610 620 630 640 650
QPNCYVLKNK DLEQAFKGVI YLEMDLIYNP VKASIRTFTP REKRFVEDSR
660 670 680 690 700
KLSKKILSRD VDRVKRITMA IWNTMQFLKS CFQWESTLRS TIAFAVFLIT
710 720 730 740 750
VWNFELYMIP LALLLIFVYN FIRPVKGKVS SIQDSQESTD IDDEEDEDDK
760 770 780 790 800
ESEKKGLIER IYMVQDIVST VQNVLEEIAS FGERIKNTFN WTVPFLSSLA
810 820 830 840 850
CLILAAATII LYFIPLRYII LIWGINKFTK KLRNPYSIDN NELLDFLSRV
860 870
PSDVQKVQYA ELKLCSSHSP LRKKRSAL
Length:878
Mass (Da):99,596
Last modified:April 20, 2010 - v3
Checksum:i96BD26FA822C1F49
GO
Isoform 2 (identifier: Q6DN12-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     696-750: Missing.

Note: No experimental confirmation available.
Show »
Length:823
Mass (Da):93,160
Checksum:iC451D30B4C239D17
GO
Isoform 3 (identifier: Q6DN12-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-412: Missing.

Show »
Length:466
Mass (Da):53,193
Checksum:iE4113A5062F58D6E
GO
Isoform 4 (identifier: Q6DN12-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-412: Missing.
     696-718: VFLITVWNFELYMIPLALLLIFV → HRKEEPPLSMKCTLFSGDIGPSL
     719-878: Missing.

Note: No experimental confirmation available.
Show »
Length:306
Mass (Da):34,551
Checksum:i43D9AD722566B343
GO
Isoform 5 (identifier: Q6DN12-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     177-199: VPGEASDGLSNLPSPFAYLLTIH → DSQKFEMTQKFNWAHVIHIQKQT
     200-878: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:199
Mass (Da):22,200
Checksum:i0BA8316699DC5AA5
GO

Sequence cautioni

The sequence AAH41387 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence BAA91998 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti403Q → H in AAT73060 (PubMed:15528213).Curated1
Sequence conflicti501S → P in AAT73060 (PubMed:15528213).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07342146R → H Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant rs61735139dbSNPEnsembl.1
Natural variantiVAR_07342247R → H Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant rs149133063dbSNPEnsembl.1
Natural variantiVAR_07342360A → T Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant rs143256791dbSNPEnsembl.1
Natural variantiVAR_073424203G → D Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance; alters Ca(2+)-binding affinity. 1 PublicationCorresponds to variant rs201530723dbSNPEnsembl.1
Natural variantiVAR_073425235Y → C Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance; alters Ca(2+)-binding affinity. 1 PublicationCorresponds to variant rs191271656dbSNPEnsembl.1
Natural variantiVAR_073426475V → I Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant rs200107854dbSNPEnsembl.1
Natural variantiVAR_073427695A → V Found in a patient with left-sided obstructive cardiac lesions; unknown pathological significance. 1 PublicationCorresponds to variant rs370153540dbSNPEnsembl.1
Natural variantiVAR_033190877A → T.Corresponds to variant rs34193492dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0266621 – 412Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST412
Alternative sequenceiVSP_038981177 – 199VPGEA…LLTIH → DSQKFEMTQKFNWAHVIHIQ KQT in isoform 5. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_038982200 – 878Missing in isoform 5. 1 PublicationAdd BLAST679
Alternative sequenceiVSP_026664696 – 750Missing in isoform 2. 1 PublicationAdd BLAST55
Alternative sequenceiVSP_026665696 – 718VFLIT…LLIFV → HRKEEPPLSMKCTLFSGDIG PSL in isoform 4. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_026666719 – 878Missing in isoform 4. 1 PublicationAdd BLAST160

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY656717 mRNA. Translation: AAT73060.1.
AK001953 mRNA. Translation: BAA91998.1. Different initiation.
AK002037 mRNA. Translation: BAA92048.1.
FJ515839 Genomic DNA. Translation: ACS13731.1.
FJ515839 Genomic DNA. Translation: ACS13732.1.
AC103749 Genomic DNA. No translation available.
AC135626 Genomic DNA. No translation available.
BC025708 mRNA. Translation: AAH25708.1.
BC041387 mRNA. Translation: AAH41387.1. Sequence problems.
BC111024 mRNA. Translation: AAI11025.1.
BC131527 mRNA. Translation: AAI31528.1.
CCDSiCCDS32338.1. [Q6DN12-1]
CCDS53975.1. [Q6DN12-2]
CCDS53976.1. [Q6DN12-4]
RefSeqiNP_001153115.1. NM_001159643.1. [Q6DN12-2]
NP_001153116.1. NM_001159644.1. [Q6DN12-4]
NP_060819.3. NM_018349.3. [Q6DN12-1]
XP_005255012.1. XM_005254955.3. [Q6DN12-1]
XP_005255017.1. XM_005254960.2. [Q6DN12-3]
XP_006720666.1. XM_006720603.2. [Q6DN12-1]
XP_011520073.1. XM_011521771.2. [Q6DN12-1]
XP_011520074.1. XM_011521772.2. [Q6DN12-1]
XP_016877893.1. XM_017022404.1. [Q6DN12-2]
XP_016877894.1. XM_017022405.1. [Q6DN12-2]
UniGeneiHs.33368.

Genome annotation databases

EnsembliENST00000357742; ENSP00000350377; ENSG00000140563. [Q6DN12-1]
ENST00000451018; ENSP00000395109; ENSG00000140563. [Q6DN12-2]
ENST00000456504; ENSP00000388887; ENSG00000140563. [Q6DN12-6]
ENST00000557742; ENSP00000454847; ENSG00000140563. [Q6DN12-4]
GeneIDi55784.
KEGGihsa:55784.
UCSCiuc002btj.4. human. [Q6DN12-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY656717 mRNA. Translation: AAT73060.1.
AK001953 mRNA. Translation: BAA91998.1. Different initiation.
AK002037 mRNA. Translation: BAA92048.1.
FJ515839 Genomic DNA. Translation: ACS13731.1.
FJ515839 Genomic DNA. Translation: ACS13732.1.
AC103749 Genomic DNA. No translation available.
AC135626 Genomic DNA. No translation available.
BC025708 mRNA. Translation: AAH25708.1.
BC041387 mRNA. Translation: AAH41387.1. Sequence problems.
BC111024 mRNA. Translation: AAI11025.1.
BC131527 mRNA. Translation: AAI31528.1.
CCDSiCCDS32338.1. [Q6DN12-1]
CCDS53975.1. [Q6DN12-2]
CCDS53976.1. [Q6DN12-4]
RefSeqiNP_001153115.1. NM_001159643.1. [Q6DN12-2]
NP_001153116.1. NM_001159644.1. [Q6DN12-4]
NP_060819.3. NM_018349.3. [Q6DN12-1]
XP_005255012.1. XM_005254955.3. [Q6DN12-1]
XP_005255017.1. XM_005254960.2. [Q6DN12-3]
XP_006720666.1. XM_006720603.2. [Q6DN12-1]
XP_011520073.1. XM_011521771.2. [Q6DN12-1]
XP_011520074.1. XM_011521772.2. [Q6DN12-1]
XP_016877893.1. XM_017022404.1. [Q6DN12-2]
XP_016877894.1. XM_017022405.1. [Q6DN12-2]
UniGeneiHs.33368.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EP6NMR-A504-629[»]
ProteinModelPortaliQ6DN12.
SMRiQ6DN12.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120898. 1 interactor.
IntActiQ6DN12. 1 interactor.
STRINGi9606.ENSP00000350377.

PTM databases

iPTMnetiQ6DN12.
PhosphoSitePlusiQ6DN12.

Polymorphism and mutation databases

BioMutaiMCTP2.
DMDMi294862501.

Proteomic databases

MaxQBiQ6DN12.
PaxDbiQ6DN12.
PeptideAtlasiQ6DN12.
PRIDEiQ6DN12.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357742; ENSP00000350377; ENSG00000140563. [Q6DN12-1]
ENST00000451018; ENSP00000395109; ENSG00000140563. [Q6DN12-2]
ENST00000456504; ENSP00000388887; ENSG00000140563. [Q6DN12-6]
ENST00000557742; ENSP00000454847; ENSG00000140563. [Q6DN12-4]
GeneIDi55784.
KEGGihsa:55784.
UCSCiuc002btj.4. human. [Q6DN12-1]

Organism-specific databases

CTDi55784.
DisGeNETi55784.
GeneCardsiMCTP2.
H-InvDBHIX0012592.
HGNCiHGNC:25636. MCTP2.
HPAiHPA051176.
HPA070541.
MalaCardsiMCTP2.
MIMi616297. gene.
neXtProtiNX_Q6DN12.
OpenTargetsiENSG00000140563.
Orphaneti1596. Distal monosomy 15q.
PharmGKBiPA142671473.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1030. Eukaryota.
ENOG410XRQN. LUCA.
GeneTreeiENSGT00550000074417.
HOVERGENiHBG055341.
InParanoidiQ6DN12.
OMAiEEAGHLH.
OrthoDBiEOG091G02XX.
PhylomeDBiQ6DN12.
TreeFamiTF323373.

Miscellaneous databases

ChiTaRSiMCTP2. human.
EvolutionaryTraceiQ6DN12.
GenomeRNAii55784.
PROiQ6DN12.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140563.
CleanExiHS_MCTP2.
ExpressionAtlasiQ6DN12. baseline and differential.
GenevisibleiQ6DN12. HS.

Family and domain databases

Gene3Di2.60.40.150. 3 hits.
InterProiIPR000008. C2_dom.
IPR013583. PRibTrfase_C.
[Graphical view]
PfamiPF00168. C2. 3 hits.
PF08372. PRT_C. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 3 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 3 hits.
PROSITEiPS50004. C2. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMCTP2_HUMAN
AccessioniPrimary (citable) accession number: Q6DN12
Secondary accession number(s): A2RRC2
, C6G483, C6G484, Q49AB0, Q8TAX2, Q9NUS2, Q9NUW7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: April 20, 2010
Last modified: November 2, 2016
This is version 106 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.